Spinal Cord Neoplasm — Variants & evidence

Spinal Cord Neoplasm — Variants & evidence · CancerIndex

Variants & evidence

Curated clinical evidence by variant and therapy

4 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.

civicCuratedShowing 1–4 of 4 evidence items (4 on this page mapped to a descendant entity) · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
H3-3A K28M2
(diagnostic)	Childhood Spinal Cord NeoplasmALIAS	Diagnostic	B	Supports Positive	3	submitted	EID9794 Gessi, et al. (2015) studied 30 primary spinal diffuse high-grade gliomas (HGG) and 6 diffuse astrocytomas. The H3F3A p.K27M variant has been reported in 16 HGG (including 2 anaplastic gangliogliomas,… (full text at CIViC) PMID 26231952 · Gessi et al., 2015 · Open in CIViC	civic
〃	Childhood Spinal Cord NeoplasmALIAS	Diagnostic	C	Supports Positive	3	submitted	EID10803 16 of 30 high-grade gliomas (HGG) were found to harbor K27M mutations. The frequency of mutations was similar between adults and children (52% vs 54%). PMID 26231952 · Gessi et al., 2015 · Open in CIViC	civic
NF2 c.1396C>T2
(diagnostic)	Adult Spinal Cord Ependymoma	Diagnostic	B	Supports Positive	3	submitted	EID8066 Single strand conformation polymorphism and sequencing was used on human tumors to determine tumor NF2 genotype. This is a nonsense mutation. PMID 10433955 · Ebert et al., 1999 · Open in CIViC	civic
(predisposing)	Adult Spinal Cord Ependymoma	Predisposing	C	Supports Predisposition	2	accepted	EID8067 Blood or tumor specimens of 37 unrelated adult patients with ependymomas related to neurofibromatosis Type 2 (NF2) underwent sequencing of the NF2 gene to reveal germline variants. Overall, 64% were f… (full text at CIViC) PMID 21294614 · Plotkin et al., 2011 · Open in CIViC	civic

Data updated 7 hours agoSource updated unknownsource: civic (CC0)

Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.